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Mathilde Renaud

Showing results (61-70 of 66) with videos related to

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Journal of Medical Genetics|June 27, 2024
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsHortense Thomas, Tom Alix, Émeline Renard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorderJérémie Courraud, Eric Chater-Diehl, Benjamin Durand, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
Pageof 7

Showing results (61-70 of 66) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 66 results.
Journal of Medical Genetics|June 27, 2024
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsHortense Thomas, Tom Alix, Émeline Renard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorderJérémie Courraud, Eric Chater-Diehl, Benjamin Durand, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 familiesMehdi Benkirane, Cecilia Marelli, Claire Guissart, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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